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在一个越南病例对照队列中,两种多态性,即rs2046210和rs3803662,与乳腺癌风险相关。

Two polymorphisms, rs2046210 and rs3803662, are associated with breast cancer risk in a Vietnamese case-control cohort.

作者信息

Thanh Nguyen Thi Ngoc, Lan Nguyen Thi Tuyet, Phat Phan Thanh, Giang Nguyen Dien Thanh, Hue Nguyen Thi

机构信息

Department of Biology and Biotechnology, University of Science, Vietnam National University.

Department of Biotechnology, International University, Vietnam National University.

出版信息

Genes Genet Syst. 2018 Oct 30;93(3):101-109. doi: 10.1266/ggs.17-00053. Epub 2018 Aug 6.

Abstract

Breast cancer is the most common cancer in women worldwide. Breast tumorigenesis encompasses both extrinsic and intrinsic factors. Among intrinsic aspects, the appearance of DNA variation can cause genetic instability, which may lead to carcinogenesis. Genome-wide association studies have found several potential breast cancer-associated single nucleotide polymorphisms (SNPs) in many different populations. Among these, seven (rs2046210, rs1219648, rs3817198, rs3803662, rs889312, rs10941679 and rs13281615) have been shown to be significantly associated with breast cancer risk in various populations including those very similar to the Vietnamese. Here, therefore, we have investigated the relationship between these SNPs and breast cancer risk in a Vietnamese population case-control cohort. Real-time PCR high-resolution melt analysis was performed to genotype 300 breast cancer cases and 325 healthy controls, and the association between the seven SNPs and breast cancer risk was determined by analyzing the differences in allelic and genotypic frequencies between case and control groups using R software. While five of the seven showed no association with breast cancer, there was a relationship between the other two SNPs, rs2046210 and rs3803662, and the risk of developing this disease in Vietnamese women. The A allele is the risk allele for both rs2046210 (OR [95% CI] = 1.43 [1.14 - 1.78], P = 0.0015) and rs3803662 (OR [95% CI] = 1.45 [1.16 - 1.83], P = 0.001). We conclude that two polymorphisms, rs2046210 in ESR1 and rs3803662 in TNRC9, are associated with breast cancer risk in the Vietnamese population.

摘要

乳腺癌是全球女性中最常见的癌症。乳腺肿瘤发生涉及外在和内在因素。在内在因素方面,DNA变异的出现会导致基因不稳定,这可能引发癌变。全基因组关联研究在许多不同人群中发现了几种潜在的与乳腺癌相关的单核苷酸多态性(SNP)。其中,有七个(rs2046210、rs1219648、rs3817198、rs3803662、rs889312、rs10941679和rs13281615)已被证明在包括与越南人非常相似的人群在内的各种人群中与乳腺癌风险显著相关。因此,在此我们研究了这些SNP与越南人群病例对照队列中乳腺癌风险之间的关系。采用实时荧光定量PCR高分辨率熔解分析对300例乳腺癌病例和325例健康对照进行基因分型,并使用R软件分析病例组和对照组之间等位基因和基因型频率的差异,以确定这七个SNP与乳腺癌风险之间的关联。虽然七个SNP中的五个与乳腺癌无关联,但另外两个SNP,rs2046210和rs3803662,与越南女性患这种疾病的风险之间存在关联。A等位基因是rs2046210(比值比[95%可信区间]=1.43[1.14 - 1.78],P = 0.0015)和rs3803662(比值比[95%可信区间]=1.45[1.16 - 1.83],P = 0.001)的风险等位基因。我们得出结论,ESR1基因中的rs2046210和TNRC9基因中的rs3803662这两个多态性与越南人群的乳腺癌风险相关。

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